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Gene | BRAF |
Variant | Q257H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF Q257H lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). Q257H has been identified in sequencing studies (PMID: 28852190, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF Q257X BRAF Q257H |
Transcript | NM_004333.6 |
gDNA | chr7:g.140801501C>A |
cDNA | c.771G>T |
Protein | p.Q257H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140801501C>A | c.771G>T | p.Q257H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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